| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428818G>A | CA348406471 | PROC | c.1258G>A (p.Val420Met) c.582G>A c.1360G>A (p.Val454Met) c.1441G>A (p.Val481Met) c.1423G>A (p.Val475Met) c.1321G>A (p.Val441Met) n.1332-554C>T c.1501G>A (p.Val501Met) c.1603G>A (p.Val535Met) c.1543G>A (p.Val515Met) n.3607-554C>T n.4043-554C>T c.1426G>A (p.Val476Met) c.1444G>A (p.Val482Met) c.1201G>A (p.Val401Met) c.1234G>A (p.Val412Met) c.1252G>A (p.Val418Met) | |
| 2 | g.127428818G>C | CA348406473 | PROC | c.1258G>C (p.Val420Leu) c.582G>C c.1360G>C (p.Val454Leu) c.1441G>C (p.Val481Leu) c.1423G>C (p.Val475Leu) c.1321G>C (p.Val441Leu) n.1332-554C>G c.1501G>C (p.Val501Leu) c.1603G>C (p.Val535Leu) c.1543G>C (p.Val515Leu) n.3607-554C>G n.4043-554C>G c.1426G>C (p.Val476Leu) c.1444G>C (p.Val482Leu) c.1201G>C (p.Val401Leu) c.1234G>C (p.Val412Leu) c.1252G>C (p.Val418Leu) | |
| 2 | g.127428818G= | CA1286884665 | PROC | c.1258G= (p.Val420=) c.582G= c.1360G= (p.Val454=) c.1441G= (p.Val481=) c.1423G= (p.Val475=) c.1321G= (p.Val441=) n.1332-554C= c.1501G= (p.Val501=) c.1603G= (p.Val535=) c.1543G= (p.Val515=) n.3607-554C= n.4043-554C= c.1426G= (p.Val476=) c.1444G= (p.Val482=) c.1201G= (p.Val401=) c.1234G= (p.Val412=) c.1252G= (p.Val418=) | |
| 2 | g.127428818G>T | CA55351436 | PROC | c.1258G>T (p.Val420Leu) c.582G>T c.1360G>T (p.Val454Leu) c.1441G>T (p.Val481Leu) c.1423G>T (p.Val475Leu) c.1321G>T (p.Val441Leu) n.1332-554C>A c.1501G>T (p.Val501Leu) c.1603G>T (p.Val535Leu) c.1543G>T (p.Val515Leu) n.3607-554C>A n.4043-554C>A c.1426G>T (p.Val476Leu) c.1444G>T (p.Val482Leu) c.1201G>T (p.Val401Leu) c.1234G>T (p.Val412Leu) c.1252G>T (p.Val418Leu) | dbSNP gnomAD v2 |
| 2 | g.127428819T>A | CA1859557 | PROC | c.1259T>A (p.Val420Glu) c.583T>A c.1361T>A (p.Val454Glu) c.1442T>A (p.Val481Glu) c.1424T>A (p.Val475Glu) c.1322T>A (p.Val441Glu) n.1332-555A>T c.1502T>A (p.Val501Glu) c.1604T>A (p.Val535Glu) c.1544T>A (p.Val515Glu) n.3607-555A>T n.4043-555A>T c.1427T>A (p.Val476Glu) c.1445T>A (p.Val482Glu) c.1202T>A (p.Val401Glu) c.1235T>A (p.Val412Glu) c.1253T>A (p.Val418Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428819T>C | CA348406476 | PROC | c.1259T>C (p.Val420Ala) c.583T>C c.1361T>C (p.Val454Ala) c.1442T>C (p.Val481Ala) c.1424T>C (p.Val475Ala) c.1322T>C (p.Val441Ala) n.1332-555A>G c.1502T>C (p.Val501Ala) c.1604T>C (p.Val535Ala) c.1544T>C (p.Val515Ala) n.3607-555A>G n.4043-555A>G c.1427T>C (p.Val476Ala) c.1445T>C (p.Val482Ala) c.1202T>C (p.Val401Ala) c.1235T>C (p.Val412Ala) c.1253T>C (p.Val418Ala) | |
| 2 | g.127428819T>G | CA348406478 | PROC | c.1259T>G (p.Val420Gly) c.583T>G c.1361T>G (p.Val454Gly) c.1442T>G (p.Val481Gly) c.1424T>G (p.Val475Gly) c.1322T>G (p.Val441Gly) n.1332-555A>C c.1502T>G (p.Val501Gly) c.1604T>G (p.Val535Gly) c.1544T>G (p.Val515Gly) n.3607-555A>C n.4043-555A>C c.1427T>G (p.Val476Gly) c.1445T>G (p.Val482Gly) c.1202T>G (p.Val401Gly) c.1235T>G (p.Val412Gly) c.1253T>G (p.Val418Gly) | |
| 2 | g.127428819T= | CA1286884666 | PROC | c.1259T= (p.Val420=) c.583T= c.1361T= (p.Val454=) c.1442T= (p.Val481=) c.1424T= (p.Val475=) c.1322T= (p.Val441=) n.1332-555A= c.1502T= (p.Val501=) c.1604T= (p.Val535=) c.1544T= (p.Val515=) n.3607-555A= n.4043-555A= c.1427T= (p.Val476=) c.1445T= (p.Val482=) c.1202T= (p.Val401=) c.1235T= (p.Val412=) c.1253T= (p.Val418=) | |
| 2 | g.127428820G>A | CA428872799 | PROC | c.1260G>A (p.Val420=) c.584G>A c.1362G>A (p.Val454=) c.1443G>A (p.Val481=) c.1425G>A (p.Val475=) c.1323G>A (p.Val441=) n.1332-556C>T c.1503G>A (p.Val501=) c.1605G>A (p.Val535=) c.1545G>A (p.Val515=) n.3607-556C>T n.4043-556C>T c.1428G>A (p.Val476=) c.1446G>A (p.Val482=) c.1203G>A (p.Val401=) c.1236G>A (p.Val412=) c.1254G>A (p.Val418=) | ClinVar |
| 2 | g.127428820G>C | CA428872801 | PROC | c.1260G>C (p.Val420=) c.584G>C c.1362G>C (p.Val454=) c.1443G>C (p.Val481=) c.1425G>C (p.Val475=) c.1323G>C (p.Val441=) n.1332-556C>G c.1503G>C (p.Val501=) c.1605G>C (p.Val535=) c.1545G>C (p.Val515=) n.3607-556C>G n.4043-556C>G c.1428G>C (p.Val476=) c.1446G>C (p.Val482=) c.1203G>C (p.Val401=) c.1236G>C (p.Val412=) c.1254G>C (p.Val418=) | |
| 2 | g.127428820G>T | CA428872803 | PROC | c.1260G>T (p.Val420=) c.584G>T c.1362G>T (p.Val454=) c.1443G>T (p.Val481=) c.1425G>T (p.Val475=) c.1323G>T (p.Val441=) n.1332-556C>A c.1503G>T (p.Val501=) c.1605G>T (p.Val535=) c.1545G>T (p.Val515=) n.3607-556C>A n.4043-556C>A c.1428G>T (p.Val476=) c.1446G>T (p.Val482=) c.1203G>T (p.Val401=) c.1236G>T (p.Val412=) c.1254G>T (p.Val418=) | |
| 2 | g.127428821A= | CA1286884667 | PROC | c.1261A= (p.Ser421=) c.585A= c.1363A= (p.Ser455=) c.1444A= (p.Ser482=) c.1426A= (p.Ser476=) c.1324A= (p.Ser442=) n.1332-557T= c.1504A= (p.Ser502=) c.1606A= (p.Ser536=) c.1546A= (p.Ser516=) n.3607-557T= n.4043-557T= c.1429A= (p.Ser477=) c.1447A= (p.Ser483=) c.1204A= (p.Ser402=) c.1237A= (p.Ser413=) c.1255A= (p.Ser419=) | |
| 2 | g.127428821A>C | CA348406480 | PROC | c.1261A>C (p.Ser421Arg) c.585A>C c.1363A>C (p.Ser455Arg) c.1444A>C (p.Ser482Arg) c.1426A>C (p.Ser476Arg) c.1324A>C (p.Ser442Arg) n.1332-557T>G c.1504A>C (p.Ser502Arg) c.1606A>C (p.Ser536Arg) c.1546A>C (p.Ser516Arg) n.3607-557T>G n.4043-557T>G c.1429A>C (p.Ser477Arg) c.1447A>C (p.Ser483Arg) c.1204A>C (p.Ser402Arg) c.1237A>C (p.Ser413Arg) c.1255A>C (p.Ser419Arg) | |
| 2 | g.127428821A>G | CA1859558 | PROC | c.1261A>G (p.Ser421Gly) c.585A>G c.1363A>G (p.Ser455Gly) c.1444A>G (p.Ser482Gly) c.1426A>G (p.Ser476Gly) c.1324A>G (p.Ser442Gly) n.1332-557T>C c.1504A>G (p.Ser502Gly) c.1606A>G (p.Ser536Gly) c.1546A>G (p.Ser516Gly) n.3607-557T>C n.4043-557T>C c.1429A>G (p.Ser477Gly) c.1447A>G (p.Ser483Gly) c.1204A>G (p.Ser402Gly) c.1237A>G (p.Ser413Gly) c.1255A>G (p.Ser419Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428821A>T | CA348406483 | PROC | c.1261A>T (p.Ser421Cys) c.585A>T c.1363A>T (p.Ser455Cys) c.1444A>T (p.Ser482Cys) c.1426A>T (p.Ser476Cys) c.1324A>T (p.Ser442Cys) n.1332-557T>A c.1504A>T (p.Ser502Cys) c.1606A>T (p.Ser536Cys) c.1546A>T (p.Ser516Cys) n.3607-557T>A n.4043-557T>A c.1429A>T (p.Ser477Cys) c.1447A>T (p.Ser483Cys) c.1204A>T (p.Ser402Cys) c.1237A>T (p.Ser413Cys) c.1255A>T (p.Ser419Cys) | |
| 2 | g.127428822G>A | CA348406486 | PROC | c.1262G>A (p.Ser421Asn) c.586G>A c.1364G>A (p.Ser455Asn) c.1445G>A (p.Ser482Asn) c.1427G>A (p.Ser476Asn) c.1325G>A (p.Ser442Asn) n.1332-558C>T c.1505G>A (p.Ser502Asn) c.1607G>A (p.Ser536Asn) c.1547G>A (p.Ser516Asn) n.3607-558C>T n.4043-558C>T c.1430G>A (p.Ser477Asn) c.1448G>A (p.Ser483Asn) c.1205G>A (p.Ser402Asn) c.1238G>A (p.Ser413Asn) c.1256G>A (p.Ser419Asn) | ClinVar |
| 2 | g.127428822G>C | CA348406487 | PROC | c.1262G>C (p.Ser421Thr) c.586G>C c.1364G>C (p.Ser455Thr) c.1445G>C (p.Ser482Thr) c.1427G>C (p.Ser476Thr) c.1325G>C (p.Ser442Thr) n.1332-558C>G c.1505G>C (p.Ser502Thr) c.1607G>C (p.Ser536Thr) c.1547G>C (p.Ser516Thr) n.3607-558C>G n.4043-558C>G c.1430G>C (p.Ser477Thr) c.1448G>C (p.Ser483Thr) c.1205G>C (p.Ser402Thr) c.1238G>C (p.Ser413Thr) c.1256G>C (p.Ser419Thr) | |
| 2 | g.127428822G>T | CA348406489 | PROC | c.1262G>T (p.Ser421Ile) c.586G>T c.1364G>T (p.Ser455Ile) c.1445G>T (p.Ser482Ile) c.1427G>T (p.Ser476Ile) c.1325G>T (p.Ser442Ile) n.1332-558C>A c.1505G>T (p.Ser502Ile) c.1607G>T (p.Ser536Ile) c.1547G>T (p.Ser516Ile) n.3607-558C>A n.4043-558C>A c.1430G>T (p.Ser477Ile) c.1448G>T (p.Ser483Ile) c.1205G>T (p.Ser402Ile) c.1238G>T (p.Ser413Ile) c.1256G>T (p.Ser419Ile) | |
| 2 | g.127428823C>A | CA348406493 | PROC | c.1263C>A (p.Ser421Arg) c.587C>A c.1365C>A (p.Ser455Arg) c.1446C>A (p.Ser482Arg) c.1428C>A (p.Ser476Arg) c.1326C>A (p.Ser442Arg) n.1332-559G>T c.1506C>A (p.Ser502Arg) c.1608C>A (p.Ser536Arg) c.1548C>A (p.Ser516Arg) n.3607-559G>T n.4043-559G>T c.1431C>A (p.Ser477Arg) c.1449C>A (p.Ser483Arg) c.1206C>A (p.Ser402Arg) c.1239C>A (p.Ser413Arg) c.1257C>A (p.Ser419Arg) | |
| 2 | g.127428823C>G | CA348406492 | PROC | c.1263C>G (p.Ser421Arg) c.587C>G c.1365C>G (p.Ser455Arg) c.1446C>G (p.Ser482Arg) c.1428C>G (p.Ser476Arg) c.1326C>G (p.Ser442Arg) n.1332-559G>C c.1506C>G (p.Ser502Arg) c.1608C>G (p.Ser536Arg) c.1548C>G (p.Ser516Arg) n.3607-559G>C n.4043-559G>C c.1431C>G (p.Ser477Arg) c.1449C>G (p.Ser483Arg) c.1206C>G (p.Ser402Arg) c.1239C>G (p.Ser413Arg) c.1257C>G (p.Ser419Arg) | |
| 2 | g.127428823C>T | CA428872825 | PROC | c.1263C>T (p.Ser421=) c.587C>T c.1365C>T (p.Ser455=) c.1446C>T (p.Ser482=) c.1428C>T (p.Ser476=) c.1326C>T (p.Ser442=) n.1332-559G>A c.1506C>T (p.Ser502=) c.1608C>T (p.Ser536=) c.1548C>T (p.Ser516=) n.3607-559G>A n.4043-559G>A c.1431C>T (p.Ser477=) c.1449C>T (p.Ser483=) c.1206C>T (p.Ser402=) c.1239C>T (p.Ser413=) c.1257C>T (p.Ser419=) | |
| 2 | g.127428824T>A | CA348406495 | PROC | c.1264T>A (p.Trp422Arg) c.588T>A c.1366T>A (p.Trp456Arg) c.1447T>A (p.Trp483Arg) c.1429T>A (p.Trp477Arg) c.1327T>A (p.Trp443Arg) n.1332-560A>T c.1507T>A (p.Trp503Arg) c.1609T>A (p.Trp537Arg) c.1549T>A (p.Trp517Arg) n.3607-560A>T n.4043-560A>T c.1432T>A (p.Trp478Arg) c.1450T>A (p.Trp484Arg) c.1207T>A (p.Trp403Arg) c.1240T>A (p.Trp414Arg) c.1258T>A (p.Trp420Arg) | |
| 2 | g.127428824T>C | CA348406497 | PROC | c.1264T>C (p.Trp422Arg) c.588T>C c.1366T>C (p.Trp456Arg) c.1447T>C (p.Trp483Arg) c.1429T>C (p.Trp477Arg) c.1327T>C (p.Trp443Arg) n.1332-560A>G c.1507T>C (p.Trp503Arg) c.1609T>C (p.Trp537Arg) c.1549T>C (p.Trp517Arg) n.3607-560A>G n.4043-560A>G c.1432T>C (p.Trp478Arg) c.1450T>C (p.Trp484Arg) c.1207T>C (p.Trp403Arg) c.1240T>C (p.Trp414Arg) c.1258T>C (p.Trp420Arg) | |
| 2 | g.127428824T>G | CA348406498 | PROC | c.1264T>G (p.Trp422Gly) c.588T>G c.1366T>G (p.Trp456Gly) c.1447T>G (p.Trp483Gly) c.1429T>G (p.Trp477Gly) c.1327T>G (p.Trp443Gly) n.1332-560A>C c.1507T>G (p.Trp503Gly) c.1609T>G (p.Trp537Gly) c.1549T>G (p.Trp517Gly) n.3607-560A>C n.4043-560A>C c.1432T>G (p.Trp478Gly) c.1450T>G (p.Trp484Gly) c.1207T>G (p.Trp403Gly) c.1240T>G (p.Trp414Gly) c.1258T>G (p.Trp420Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428824T= | CA1286884668 | PROC | c.1264T= (p.Trp422=) c.588T= c.1366T= (p.Trp456=) c.1447T= (p.Trp483=) c.1429T= (p.Trp477=) c.1327T= (p.Trp443=) n.1332-560A= c.1507T= (p.Trp503=) c.1609T= (p.Trp537=) c.1549T= (p.Trp517=) n.3607-560A= n.4043-560A= c.1432T= (p.Trp478=) c.1450T= (p.Trp484=) c.1207T= (p.Trp403=) c.1240T= (p.Trp414=) c.1258T= (p.Trp420=) | |
| 2 | g.127428824_127428825delinsTG | CA1286884669 | PROC | c.1264_1265delinsTG (p.Trp422=) c.588_589delinsTG c.1366_1367delinsTG (p.Trp456=) c.1447_1448delinsTG (p.Trp483=) c.1429_1430delinsTG (p.Trp477=) c.1327_1328delinsTG (p.Trp443=) n.1332-561_1332-560delinsCA c.1507_1508delinsTG (p.Trp503=) c.1609_1610delinsTG (p.Trp537=) c.1549_1550delinsTG (p.Trp517=) n.3607-561_3607-560delinsCA n.4043-561_4043-560delinsCA c.1432_1433delinsTG (p.Trp478=) c.1450_1451delinsTG (p.Trp484=) c.1207_1208delinsTG (p.Trp403=) c.1240_1241delinsTG (p.Trp414=) c.1258_1259delinsTG (p.Trp420=) | |
| 2 | g.127428825G>A | CA348406501 | PROC | c.1265G>A (p.Trp422Ter) c.589G>A c.1367G>A (p.Trp456Ter) c.1448G>A (p.Trp483Ter) c.1430G>A (p.Trp477Ter) c.1328G>A (p.Trp443Ter) n.1332-561C>T c.1508G>A (p.Trp503Ter) c.1610G>A (p.Trp537Ter) c.1550G>A (p.Trp517Ter) n.3607-561C>T n.4043-561C>T c.1433G>A (p.Trp478Ter) c.1451G>A (p.Trp484Ter) c.1208G>A (p.Trp403Ter) c.1241G>A (p.Trp414Ter) c.1259G>A (p.Trp420Ter) | ClinVar |
| 2 | g.127428825G>C | CA348406503 | PROC | c.1265G>C (p.Trp422Ser) c.589G>C c.1367G>C (p.Trp456Ser) c.1448G>C (p.Trp483Ser) c.1430G>C (p.Trp477Ser) c.1328G>C (p.Trp443Ser) n.1332-561C>G c.1508G>C (p.Trp503Ser) c.1610G>C (p.Trp537Ser) c.1550G>C (p.Trp517Ser) n.3607-561C>G n.4043-561C>G c.1433G>C (p.Trp478Ser) c.1451G>C (p.Trp484Ser) c.1208G>C (p.Trp403Ser) c.1241G>C (p.Trp414Ser) c.1259G>C (p.Trp420Ser) | |
| 2 | g.127428825G>T | CA348406504 | PROC | c.1265G>T (p.Trp422Leu) c.589G>T c.1367G>T (p.Trp456Leu) c.1448G>T (p.Trp483Leu) c.1430G>T (p.Trp477Leu) c.1328G>T (p.Trp443Leu) n.1332-561C>A c.1508G>T (p.Trp503Leu) c.1610G>T (p.Trp537Leu) c.1550G>T (p.Trp517Leu) n.3607-561C>A n.4043-561C>A c.1433G>T (p.Trp478Leu) c.1451G>T (p.Trp484Leu) c.1208G>T (p.Trp403Leu) c.1241G>T (p.Trp414Leu) c.1259G>T (p.Trp420Leu) | |
| 2 | g.127428828del | CA1286884670 | PROC | c.1268del (p.Gly423ValfsTer?) c.592del c.1370del (p.Gly457ValfsTer?) c.1451del (p.Gly484ValfsTer?) c.1433del (p.Gly478ValfsTer?) c.1331del (p.Gly444ValfsTer?) n.1332-561del c.1511del (p.Gly504ValfsTer?) c.1613del (p.Gly538ValfsTer?) c.1553del (p.Gly518ValfsTer?) n.3607-561del n.4043-561del c.1436del (p.Gly479ValfsTer?) c.1454del (p.Gly485ValfsTer?) c.1211del (p.Gly404ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1262del (p.Gly421ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428826G>A | CA348406507 | PROC | c.1266G>A (p.Trp422Ter) c.590G>A c.1368G>A (p.Trp456Ter) c.1449G>A (p.Trp483Ter) c.1431G>A (p.Trp477Ter) c.1329G>A (p.Trp443Ter) n.1332-562C>T c.1509G>A (p.Trp503Ter) c.1611G>A (p.Trp537Ter) c.1551G>A (p.Trp517Ter) n.3607-562C>T n.4043-562C>T c.1434G>A (p.Trp478Ter) c.1452G>A (p.Trp484Ter) c.1209G>A (p.Trp403Ter) c.1242G>A (p.Trp414Ter) c.1260G>A (p.Trp420Ter) | ClinVar dbSNP |
| 2 | g.127428826G>C | CA348406509 | PROC | c.1266G>C (p.Trp422Cys) c.590G>C c.1368G>C (p.Trp456Cys) c.1449G>C (p.Trp483Cys) c.1431G>C (p.Trp477Cys) c.1329G>C (p.Trp443Cys) n.1332-562C>G c.1509G>C (p.Trp503Cys) c.1611G>C (p.Trp537Cys) c.1551G>C (p.Trp517Cys) n.3607-562C>G n.4043-562C>G c.1434G>C (p.Trp478Cys) c.1452G>C (p.Trp484Cys) c.1209G>C (p.Trp403Cys) c.1242G>C (p.Trp414Cys) c.1260G>C (p.Trp420Cys) | |
| 2 | g.127428826G>T | CA348406510 | PROC | c.1266G>T (p.Trp422Cys) c.590G>T c.1368G>T (p.Trp456Cys) c.1449G>T (p.Trp483Cys) c.1431G>T (p.Trp477Cys) c.1329G>T (p.Trp443Cys) n.1332-562C>A c.1509G>T (p.Trp503Cys) c.1611G>T (p.Trp537Cys) c.1551G>T (p.Trp517Cys) n.3607-562C>A n.4043-562C>A c.1434G>T (p.Trp478Cys) c.1452G>T (p.Trp484Cys) c.1209G>T (p.Trp403Cys) c.1242G>T (p.Trp414Cys) c.1260G>T (p.Trp420Cys) | |
| 2 | g.127428827G>A | CA348406513 | PROC | c.1267G>A (p.Gly423Ser) c.591G>A c.1369G>A (p.Gly457Ser) c.1450G>A (p.Gly484Ser) c.1432G>A (p.Gly478Ser) c.1330G>A (p.Gly444Ser) n.1332-563C>T c.1510G>A (p.Gly504Ser) c.1612G>A (p.Gly538Ser) c.1552G>A (p.Gly518Ser) n.3607-563C>T n.4043-563C>T c.1435G>A (p.Gly479Ser) c.1453G>A (p.Gly485Ser) c.1210G>A (p.Gly404Ser) c.1243G>A (p.Gly415Ser) c.1261G>A (p.Gly421Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428827G>C | CA348406514 | PROC | c.1267G>C (p.Gly423Arg) c.591G>C c.1369G>C (p.Gly457Arg) c.1450G>C (p.Gly484Arg) c.1432G>C (p.Gly478Arg) c.1330G>C (p.Gly444Arg) n.1332-563C>G c.1510G>C (p.Gly504Arg) c.1612G>C (p.Gly538Arg) c.1552G>C (p.Gly518Arg) n.3607-563C>G n.4043-563C>G c.1435G>C (p.Gly479Arg) c.1453G>C (p.Gly485Arg) c.1210G>C (p.Gly404Arg) c.1243G>C (p.Gly415Arg) c.1261G>C (p.Gly421Arg) | |
| 2 | g.127428827G= | CA1286884671 | PROC | c.1267G= (p.Gly423=) c.591G= c.1369G= (p.Gly457=) c.1450G= (p.Gly484=) c.1432G= (p.Gly478=) c.1330G= (p.Gly444=) n.1332-563C= c.1510G= (p.Gly504=) c.1612G= (p.Gly538=) c.1552G= (p.Gly518=) n.3607-563C= n.4043-563C= c.1435G= (p.Gly479=) c.1453G= (p.Gly485=) c.1210G= (p.Gly404=) c.1243G= (p.Gly415=) c.1261G= (p.Gly421=) | |
| 2 | g.127428827G>T | CA348406516 | PROC | c.1267G>T (p.Gly423Cys) c.591G>T c.1369G>T (p.Gly457Cys) c.1450G>T (p.Gly484Cys) c.1432G>T (p.Gly478Cys) c.1330G>T (p.Gly444Cys) n.1332-563C>A c.1510G>T (p.Gly504Cys) c.1612G>T (p.Gly538Cys) c.1552G>T (p.Gly518Cys) n.3607-563C>A n.4043-563C>A c.1435G>T (p.Gly479Cys) c.1453G>T (p.Gly485Cys) c.1210G>T (p.Gly404Cys) c.1243G>T (p.Gly415Cys) c.1261G>T (p.Gly421Cys) | |
| 2 | g.127428828G>A | CA348406520 | PROC | c.1268G>A (p.Gly423Asp) c.592G>A c.1370G>A (p.Gly457Asp) c.1451G>A (p.Gly484Asp) c.1433G>A (p.Gly478Asp) c.1331G>A (p.Gly444Asp) n.1332-564C>T c.1511G>A (p.Gly504Asp) c.1613G>A (p.Gly538Asp) c.1553G>A (p.Gly518Asp) n.3607-564C>T n.4043-564C>T c.1436G>A (p.Gly479Asp) c.1454G>A (p.Gly485Asp) c.1211G>A (p.Gly404Asp) c.1244G>A (p.Gly415Asp) c.1262G>A (p.Gly421Asp) | gnomAD v4 |
| 2 | g.127428828G>C | CA348406522 | PROC | c.1268G>C (p.Gly423Ala) c.592G>C c.1370G>C (p.Gly457Ala) c.1451G>C (p.Gly484Ala) c.1433G>C (p.Gly478Ala) c.1331G>C (p.Gly444Ala) n.1332-564C>G c.1511G>C (p.Gly504Ala) c.1613G>C (p.Gly538Ala) c.1553G>C (p.Gly518Ala) n.3607-564C>G n.4043-564C>G c.1436G>C (p.Gly479Ala) c.1454G>C (p.Gly485Ala) c.1211G>C (p.Gly404Ala) c.1244G>C (p.Gly415Ala) c.1262G>C (p.Gly421Ala) | |
| 2 | g.127428828G>T | CA348406519 | PROC | c.1268G>T (p.Gly423Val) c.592G>T c.1370G>T (p.Gly457Val) c.1451G>T (p.Gly484Val) c.1433G>T (p.Gly478Val) c.1331G>T (p.Gly444Val) n.1332-564C>A c.1511G>T (p.Gly504Val) c.1613G>T (p.Gly538Val) c.1553G>T (p.Gly518Val) n.3607-564C>A n.4043-564C>A c.1436G>T (p.Gly479Val) c.1454G>T (p.Gly485Val) c.1211G>T (p.Gly404Val) c.1244G>T (p.Gly415Val) c.1262G>T (p.Gly421Val) | |
| 2 | g.127428829T>A | CA428872869 | PROC | c.1269T>A (p.Gly423=) c.593T>A c.1371T>A (p.Gly457=) c.1452T>A (p.Gly484=) c.1434T>A (p.Gly478=) c.1332T>A (p.Gly444=) n.1332-565A>T c.1512T>A (p.Gly504=) c.1614T>A (p.Gly538=) c.1554T>A (p.Gly518=) n.3607-565A>T n.4043-565A>T c.1437T>A (p.Gly479=) c.1455T>A (p.Gly485=) c.1212T>A (p.Gly404=) c.1245T>A (p.Gly415=) c.1263T>A (p.Gly421=) | |
| 2 | g.127428829T>C | CA428872875 | PROC | c.1269T>C (p.Gly423=) c.593T>C c.1371T>C (p.Gly457=) c.1452T>C (p.Gly484=) c.1434T>C (p.Gly478=) c.1332T>C (p.Gly444=) n.1332-565A>G c.1512T>C (p.Gly504=) c.1614T>C (p.Gly538=) c.1554T>C (p.Gly518=) n.3607-565A>G n.4043-565A>G c.1437T>C (p.Gly479=) c.1455T>C (p.Gly485=) c.1212T>C (p.Gly404=) c.1245T>C (p.Gly415=) c.1263T>C (p.Gly421=) | |
| 2 | g.127428829T>G | CA428872872 | PROC | c.1269T>G (p.Gly423=) c.593T>G c.1371T>G (p.Gly457=) c.1452T>G (p.Gly484=) c.1434T>G (p.Gly478=) c.1332T>G (p.Gly444=) n.1332-565A>C c.1512T>G (p.Gly504=) c.1614T>G (p.Gly538=) c.1554T>G (p.Gly518=) n.3607-565A>C n.4043-565A>C c.1437T>G (p.Gly479=) c.1455T>G (p.Gly485=) c.1212T>G (p.Gly404=) c.1245T>G (p.Gly415=) c.1263T>G (p.Gly421=) | |
| 2 | g.127428830G>A | CA348406528 | PROC | c.1270G>A (p.Glu424Lys) c.594G>A c.1372G>A (p.Glu458Lys) c.1453G>A (p.Glu485Lys) c.1435G>A (p.Glu479Lys) c.1333G>A (p.Glu445Lys) n.1332-566C>T c.1513G>A (p.Glu505Lys) c.1615G>A (p.Glu539Lys) c.1555G>A (p.Glu519Lys) n.3607-566C>T n.4043-566C>T c.1438G>A (p.Glu480Lys) c.1456G>A (p.Glu486Lys) c.1213G>A (p.Glu405Lys) c.1246G>A (p.Glu416Lys) c.1264G>A (p.Glu422Lys) | |
| 2 | g.127428830G>C | CA348406525 | PROC | c.1270G>C (p.Glu424Gln) c.594G>C c.1372G>C (p.Glu458Gln) c.1453G>C (p.Glu485Gln) c.1435G>C (p.Glu479Gln) c.1333G>C (p.Glu445Gln) n.1332-566C>G c.1513G>C (p.Glu505Gln) c.1615G>C (p.Glu539Gln) c.1555G>C (p.Glu519Gln) n.3607-566C>G n.4043-566C>G c.1438G>C (p.Glu480Gln) c.1456G>C (p.Glu486Gln) c.1213G>C (p.Glu405Gln) c.1246G>C (p.Glu416Gln) c.1264G>C (p.Glu422Gln) | |
| 2 | g.127428830G>T | CA348406526 | PROC | c.1270G>T (p.Glu424Ter) c.594G>T c.1372G>T (p.Glu458Ter) c.1453G>T (p.Glu485Ter) c.1435G>T (p.Glu479Ter) c.1333G>T (p.Glu445Ter) n.1332-566C>A c.1513G>T (p.Glu505Ter) c.1615G>T (p.Glu539Ter) c.1555G>T (p.Glu519Ter) n.3607-566C>A n.4043-566C>A c.1438G>T (p.Glu480Ter) c.1456G>T (p.Glu486Ter) c.1213G>T (p.Glu405Ter) c.1246G>T (p.Glu416Ter) c.1264G>T (p.Glu422Ter) | |
| 2 | g.127428831A= | CA1286884672 | PROC | c.1271A= (p.Glu424=) c.595A= c.1373A= (p.Glu458=) c.1454A= (p.Glu485=) c.1436A= (p.Glu479=) c.1334A= (p.Glu445=) n.1332-567T= c.1514A= (p.Glu505=) c.1616A= (p.Glu539=) c.1556A= (p.Glu519=) n.3607-567T= n.4043-567T= c.1439A= (p.Glu480=) c.1457A= (p.Glu486=) c.1214A= (p.Glu405=) c.1247A= (p.Glu416=) c.1265A= (p.Glu422=) | |
| 2 | g.127428831A>C | CA348406530 | PROC | c.1271A>C (p.Glu424Ala) c.595A>C c.1373A>C (p.Glu458Ala) c.1454A>C (p.Glu485Ala) c.1436A>C (p.Glu479Ala) c.1334A>C (p.Glu445Ala) n.1332-567T>G c.1514A>C (p.Glu505Ala) c.1616A>C (p.Glu539Ala) c.1556A>C (p.Glu519Ala) n.3607-567T>G n.4043-567T>G c.1439A>C (p.Glu480Ala) c.1457A>C (p.Glu486Ala) c.1214A>C (p.Glu405Ala) c.1247A>C (p.Glu416Ala) c.1265A>C (p.Glu422Ala) | |
| 2 | g.127428831A>G | CA348406532 | PROC | c.1271A>G (p.Glu424Gly) c.595A>G c.1373A>G (p.Glu458Gly) c.1454A>G (p.Glu485Gly) c.1436A>G (p.Glu479Gly) c.1334A>G (p.Glu445Gly) n.1332-567T>C c.1514A>G (p.Glu505Gly) c.1616A>G (p.Glu539Gly) c.1556A>G (p.Glu519Gly) n.3607-567T>C n.4043-567T>C c.1439A>G (p.Glu480Gly) c.1457A>G (p.Glu486Gly) c.1214A>G (p.Glu405Gly) c.1247A>G (p.Glu416Gly) c.1265A>G (p.Glu422Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428831A>T | CA348406534 | PROC | c.1271A>T (p.Glu424Val) c.595A>T c.1373A>T (p.Glu458Val) c.1454A>T (p.Glu485Val) c.1436A>T (p.Glu479Val) c.1334A>T (p.Glu445Val) n.1332-567T>A c.1514A>T (p.Glu505Val) c.1616A>T (p.Glu539Val) c.1556A>T (p.Glu519Val) n.3607-567T>A n.4043-567T>A c.1439A>T (p.Glu480Val) c.1457A>T (p.Glu486Val) c.1214A>T (p.Glu405Val) c.1247A>T (p.Glu416Val) c.1265A>T (p.Glu422Val) |